ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu)

dbSNP: rs778929049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381683 SCV000345173 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546000 SCV000649077 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 290593). This missense change has been observed in individual(s) with clinical features of spinocerebellar ataxia (PMID: 32889669). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 6156 of the SYNE1 protein (p.Arg6156Leu). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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